Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle Page 1 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 600994 Deafness, autosomal dominant 5 Deafness, autosomal dominant 5 (3) 000 604392 Arylhydrocarbon-interacting receptor Leber congenital amaurosis, 604393 (3) 010 protein-like 1 154500 Treacher Collins-Franceschetti syndrome-1 Treacher Collins mandibulofacial 011 (TREACLE) dysostosis (3) 301200 Amelogenin Amelogenesis imperfecta (3) 010 309000 Oculocerebrorenal syndrome of Lowe Lowe syndrome (3) 02 300500 Ocular albinism-1, Nettleship-Falls type Ocular albinism, Nettleship-Falls type (3) 02 300031 Fragile site, folic acid type, rare, fra(X)(q28) Mental retardation, X-linked, FRAXF type 020 (3) 180090 Retinaldehyde-binding protein-1, cellular Retinitis pigmentosa, autosomal recessive 030 (3) 604365 Prominin, mouse, homolog-like 1 Retinal degeneration, autosomal recessive, 030 prominin-related (3) 602280 Tubby-like protein-1 Retinitis pigmentosa-14, 600132 (3) 030 603937 Oxygen-regulated photoreceptor protein-1 Retinitis pigmentosa-1, 180100 (3) 030 (retinitis pigmentosa-1) 153700 Vitelliform macular dystrophy (Best Macular dystrophy, vitelliform type (3) 030 disease) 601652 Myocilin (trabecular meshwork-induced Glaucoma 1A, primary open angle, juvenile- 030 glucocorticoid response protein) onset, 137750 (3); Glaucoma 1A, primary open angle, recessive (3) 142640 Histidine-rich glycoprotein Thrombophilia due to HRG deficiency (3); 040 ?Thrombophilia due to elevated HRG (1) 603904 Integral membrane protein 2B (BRI gene) Dementia, familial British, 176500 (3); 040 Dementia, familial Danish, 117300 (3) 163890 Synuclein, alpha (non A4 component of Parkinson disease, type 1, 601508 (3) 040 amyloid precursor) 137290 Membrane component, chromosome 1, Corneal dystrophy, gelatinous drop-like, 050 surface marker 1 (40kD glycoprotein, 204870 (3) identified by monoclonal antibody GA733) 601517 Ataxin-2 Spinocerebellar ataxia-2, 183090 (3) 030 162200 Neurofibromin (neurofibromatosis, type I) Neurofibromatosis, type 1 (3); Watson 03 syndrome, 193520 (3); Leukemia, juvenile myelomonocytic (3) 235200 Hemochromatosis Hemochromatosis (3); Porphyria variegata, 040 176200 (3) 240300 Autoimmune regulator Autoimmune polyglandular disease, type I 040 (3) 173910 Polycystin-2 Polycystic kidney disease, adult, type II (3) 040 602452 Budding uninhibited by benzimidazoles 1, Colorectal cancer with chromosomal 050 S. cerevisiae, homolog of (mitotic instability (3) checkpoint gene BUB1) 602117 Necdin Prader-Willi syndrome, 176270 (3) 011 219800 Cystinosis Cystinosis, nephropathic (3) 020 256731 Ceroid-lipofuscinosis, neuronal-5 Ceroid-lipofuscinosis, neuronal-5, variant 030 late infantile (3) 253800 Fukuyama congenital muscular dystrophy Muscular dystrophy, Fukuyama congenital 031 (3); ?Walker-Warburg syndrome, 236670 (2) 208900 Ataxia-telangiectasia mutated (includes Ataxia-telangiectasia (3); T-cell 030 complementation groups A, C, D, and E) prolymphocytic leukemia, sporadic (3); Lymphoma, B-cell non-Hodgkin, somatic (3); {Breast cancer, susceptibility to} (3); Lymphoma, mantel cell (3) 229300 Frataxin Friedreich ataxia (3); Friedreich ataxia with 030 retained reflexes (2) 156570 5-methyltetrahydrofolate-homocysteine Methylcobalamin deficiency, cbl G type (3) 03 methyltransferase 1 222300 Wolframin Wolfram syndrome (3) 030 256100 Nephronophthisis-1 gene Nephronophthisis, juvenile (3) 030 190080 Avian myelocytomatosis viral (v-myc) Burkitt lymphoma, 113970 (3) 030 oncogene homolog 191100 Tuberous sclerosis-1 Tuberous sclerosis-1 (3) 030 603009 Dysferlin Muscular dystrophy, limb-girdle, type 2B, 040 253601 (3); Miyoshi myopathy, 254130 (3); Myopathy, distal, with anterior tibial onset (3) Copyright 2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle Page 2 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 164500 Spinocerebellar ataxia 7 Spinocerebellar ataxia-7 (3) 040 (olivopontocerebellar atrophy with retinal degeneration) 605018 Cylindromatosis gene Cylindromatosis, familial, 132700 (3) 040 601556 Ataxin-1 Spinocerebellar ataxia-1, 164400 (3) 0 4 191092 Tuberous sclerosis-2 (tuberin) Tuberous sclerosis-2 (3) 040 193300 von Hippel-Lindau syndrome von Hippel-Lindau syndrome (3); Renal cell 040 carcinoma (3) 170993 Peroxisomal membrane protein-3, 35kD Zellweger syndrome-3 (3); Refsum 011 disease, infantile form, 266510 (3) 604831 Ellis-van Creveld syndrome gene Ellis-van Creveld syndrome, 225500 (3); 011 Weyers acrodental dysostosis, 193530 (3) 214500 Lysosomal trafficking regulator Chediak-Higashi syndrome (3) 020 600354 Survival of motor neuron 1, telomeric Spinal muscular atrophy-1, 253300 (3); 020 Spinal muscular atrophy-2, 253550 (3); Spinal muscular atrophy-3, 253400 (3) 185620 Surfeit-1 Leigh syndrome, due to COX deficiency, 020 256000 (3) 257220 Niemann-Pick disease, type C Niemann-Pick disease, type C1 (3); 02 Niemann-Pick disease, type D, 257250 (3) 600005 MHC class II transactivator MHC class II deficiency, complementation 020 group A, 209920 (3) 156490 Non-metastatic cells 1, protein (NM23A) Neuroblastoma (3) 02 expressed in 204200 Ceroid-lipofuscinosis, neuronal-3, juvenile Ceroid-lipofuscinosis, neuronal-3, juvenile 030 (Batten disease) (3) 216400 Cockayne syndrome 1, classical Cockayne syndrome-1 (3) 030 253250 Mulibrey nanism gene Mulibrey nanism, 253250 (3) 030 312080 Proteolipid protein Pelizaeus-Merzbacher disease (3); Spastic 03 paraplegia-2, 312920 (3) 164040 Nucleophosmin 1 (nucleolar Leukemia, acute promyelocytic, 040 phosphoprotein B23, numatrin) NPM/RARA type (3) 143100 Huntingtin Huntington disease (3) 04 480000 Sex-determining region Y (testis Gonadal dysgenesis, XY type (3) 00 determining factor) 119500 Popliteala pterygium syndrome Popliteal pterygium syndrome (3) 011 302060 Tafazzin Endocardial fibroelastosis-2 (2); Barth 01 syndrome (3); Cardiomyopathy, X-linked dilated, 300069 (3); Noncompaction of left ventricular myocardium, isolated, 300183 (3) 115501 Tyrosinase-related protein 1 Albinism, brown, 203290 (1); Albinism, 02 rufous, 278400 (3) 305100 Ectodermal dysplasia-1, anhidrotic Ectodermal dysplasia-1, anhidrotic (3) 020 109150 Machado-Joseph disease (spinocerebellar Machado-Joseph disease (3) 040 ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant); ataxin-3 603680 Spinocerebellar ataxia 8 Spinocerebellar ataxia 8 (3) 040 604214 KREV interaction trapped 1 Cerebral cavernous malformations-1, 041 116860 (3) 604277 Spastin Spastic paraplegia-4, 182601 (3) 040 601097 Peripheral myelin protein-22 Charcot-Marie-Tooth neuropathy-1A, 0 4 118220 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, recurrent, with pressure palsies, 162500 (3); Charcot- Marie-Tooth disease with deafness, 118300 (3) 113705 Breast cancer-1, early onset Breast cancer-1 (3); Ovarian cancer (3) 040 201460 Acyl-Coenzyme A dehydrogenase, long Acyl-CoA dehydrogenase, long chain, 121000 chain deficiency of (3) 274500 Thyroid peroxidase Thyroid iodine peroxidase deficiency (1); 13100 Goiter, congenital (3); Hypothyroidism, congenital (3) 138571 Glycogen synthase-2, liver Glycogen storage disease, type 0, 240600 10110 (3) 603005 ATP sulfurylase/APS kinase 2 SEMD, Pakistani type (3) 101101 601771 Cytochrome P450, subfamily I, dioxin- Glaucoma 3A, primary infantile, 231300 (3) 121100 inducible, polypeptide 1 Copyright 2001 Johns Hopkins University. All rights reserved Human Disease Genes Database G. Jimenez-Sanchez, B. Childs, D. Valle Page 3 of 29 Prot Mode Age Life MIM # Locus Name Disease name funct Freq Inher onset Expect Malfor 250790 Cytochrome b5 Methemoglobinemia due to cytochrome b5 131100 deficiency (3) 300180 Arylsulfatase E Chondrodysplasia punctata, X-linked 103101 recessive, 302950 (3); Chondrodysplasia punctata, brachytelephalangic, 302940 (3) 203100 Tyrosinase Albinism, oculocutaneous, type IA (3); 101200 Waardenburg syndrome/ocular albinism, digenic, 103470 (3) 250800 Diaphorase (NADH); cytochrome b-5 Methemoglobinemia, type I (3); 101200 reductase Methemoglobinemia, type II (3) 604313 Galactokinase-1 Galactokinase deficiency with cataracts, 10120 230200 (3) 203200 Oculocutaneous albinism II (pink-eye Albinism, oculocutaneous, type II (3); 121201 dilution, murine, homolog of) Albinism, ocular, autosomal recessive (3) 261600 Phenylalanine hydroxylase Phenylketonuria (3); 12120 [Hyperphenylalaninemia, mild] (3) 103850 Aldolase A, fructose-bisphosphatase Aldolase A deficiency (3) 131200 203500 Homogentisate 1,2-dioxygenase Alkaptonuria (3) 131200 (homogentisate oxidase) 222900 Sucrase-isomaltase Sucrose intolerance (3) 131200 250850 Methionine adenosyltransferase I, alpha Hypermethioninemia, persistent, autosomal 131200 dominant, due to methionine adenosyltransferase I/III deficiency (3); Methionine adenosyltransferase deficiency, autosomal recessive (3) 261630 Quinoid dihydropteridine reductase Phenylketonuria due to dihydropteridine 13120 reductase deficiency (3) 261640 6-pyruvoyltetrahydropterin synthase Phenylketonuria due to PTS deficiency (3) 13120 107730 Apolipoprotein B (including Ag(x) antigen) Hypobetalipoproteinemia (3); 11220 Abetalipoproteinemia (3); Hyperbetalipoproteinemia, 144400 (3); Apolipoprotein B-100, ligand-defective, 144010 (3) 305900 Glucose-6-phosphate dehydrogenase G6PD deficiency (3); Favism (3); Hemolytic 113200 anemia due to G6PD deficiency (3) 308100 Steroid sulfatase, microsomal (arylsulfatase Ichthyosis, X-linked (3); Placental